Skip to main content

Table 1 Genetic and clinical findings for the 19 unrelated patients analyzed by the present study

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

IndividuaI’s ID initial diagnostic request gender parental consan-guinity age at referral [months] subcuta-neous nodule skin abnormalities skeletal or muscle abnormalities pain joint involvement coarse facies visceral involvement ANTXR2 variants identified (all in homozygous state)
1013011 ANTXR2 male n.r. 8 + + +   +    c.1074delT
1019835 ANTXR2 female n.r. 248 +   + +    + c.1180-?_1428 +?del
1030796 ANTXR2 male n.r. 12 n.r. c.1074delT
1034217 ANTXR2 female n.r. 13 n.r. c.1073dupC
1034651 ANTXR2 male yes 6 n.r. c.134 T > C
1062973 ANTXR2 male yes 8 n.r. c.1074delT
1083931 WES female yes 22    +   + +   c.134 T > C
1111097 ANTXR2 male n.r. 4     + +    c.1074delT
1124610 ANTXR2 male yes 1 + +   + +    c.134 T > C
1160661 ANTXR2 female yes 65 + + +   +   + c.1294C > T
1167266 WES female yes 16 +   +   +    c.652 T > C
1175869 WES male yes 3   + + +    + c.720delT
1205436 ASAH1 male yes 5   + + + + + + c.720delT
1206223 ASAH1 male n.r. 18 +   + + +    c.994delC
1206224 WES male n.r. 17 +   + + + +   c.1073delC
1218829 ASAH1 male yes 10 + + +   + +   c.1074delT
1219558 ASAH1 female yes 15 +   +   +    c.1074delT
1223185 WES male n.r. 9    +   + + + c.134 T > C
1234238 ASAH1 male n.r. 8 + + + +     c.51delC
  1. n.r. not reported